Jain Foundation Inc

We are thrilled to share cutting-edge findings published in the journal Science by the Anderson Lab.?Dr. Douglas Anderson is the lead author of this study and an assistant professor at the University of Rochester School of Medicine and Dentistry. The study demonstrated how the innovative StitchR technology, short for “stitch RNA,” can restore the expression of large proteins like dysferlin and dystrophin. It achieves this by "stitching" together two RNA fragments of a gene to create a full-length transcript that enables a full-length protein. The intent is to develop the StitchR technology to facilitate gene replacement therapy using multiple viruses to deliver genes that are too big to fit in a single AAV vector.?This work is a significant step forward in the development of genetic therapies for Dysferlinopathy (LGMD2B/R2, Myoshi Myopathy) and Duchenne muscular dystrophy. This research was supported by the Jain Foundation, along with the University of Rochester, CANbridge Pharmaceuticals, and Scriptr Global, Inc. Dr Anderson is a co-founder of Scriptr Global, Inc. Excerpt from University of Rochester communications department- https://lnkd.in/gPQsXTV8 Full article link- https://lnkd.in/dPuVbYtB

**Supporting Global Research on LGMD2B/Dysferlinopathy with Bla/J Mice** One of the ways Jain Foundation Inc advances dysferlin research and drives discovery forward is by maintaining a private colony of Bla/J mice. These mice are available at various ages/stages of the disease cycle and are provided *free of charge* to researchers worldwide. Right now, we have mice at advanced ages that are ready for immediate use. Visit our Dysferlin Research Blog for details and ordering information. https://lnkd.in/dDj7Xm7w Together, let’s accelerate progress!

Our Co-President, Laura Rufibach, will be attending the American Society of Gene & Cell Therapy and Muscular Dystrophy Association conference this week in Chicago. Don’t miss the chance to connect with her and discuss the latest advancements in gene and cell therapy for LGMD2B. #ASGCTBreakthroughs24

Dr. Pascal Bernatchez and his team at the University of British Columbia have shown that high cholesterol levels can exacerbate muscle problems in a dysferlinopathy mouse model. Building on their previous research, they recently published new findings in a paper titled “Apolipoprotein E knockout, but not cholesteryl ester transfer protein (CETP)-associated high-density lipoprotein cholesterol (HDL-C) lowering, exacerbates muscle wasting in dysferlin-null mice”. https://lnkd.in/dbMuaZCV In our latest Dysferlin Research Blog post, we delve into these findings and feature a brief Q&A with Dr. Bernatchez. To read our latest blog entry, please visit: https://lnkd.in/dGx7KJvA

Congratulations to the Sarepta team! We’re incredibly grateful for your dedication and hard work in advancing genetic therapies. Excited to see the new discoveries on the horizon for LGMD and muscular dystrophy. Together, we're making strides toward a brighter future! #ResearchExcellence #MuscularDystrophy #LGMD #Innovation

Jain Foundation is reposting a webinar recorded by MDA’s advocacy institute featuring a nonpartisan discussion on challenges the neuromuscular and disability communities face when voting. You will hear solutions and get more resources. Watch here- https://lnkd.in/empubssN More resources are available ?? MDA.org/Vote #MDA #Advocacy #AccessTheVote

Congratulations and Thank You to David Baker of the University of Washington (UW), on receiving the 2024 Nobel Prize in Chemistry for his pioneering work on protein folding. Dr. Baker’s work on protein folding predictions and his open sharing of the related software has helped many other researchers gain a better understanding of protein function.?This has been a great value in the rare genetic disease space where understanding the function of a mutant or absent protein is critical to understanding the nature of the disease. In the dysferlin field, the Baker lab’s early efforts with dysferlin and public access to RoseTTAFold and its predecessors helped spur other researchers including Bryan Sutton (Texas Tech University), to develop a more accurate prediction of dysferlin’s structure.?This information is the foundation for understanding dysferlinopathy and our efforts to find treatments, which is why it is so important to our cause. Congratulations David on the recognition of the impact of your work, and thank you, for helping our cause and so many others.? https://lnkd.in/dbXNwZwk

Today we are highlighting a publication from the ClinGen Limb Girdle Muscular Dystrophy Gene Curation Expert Panel (LGMD GCEP).?This panel worked on 31 LGMD genes in the initial scope of work and recently published their expert-reviewed assertions on the clinical validity of these genes implicated in LGMDs (https://lnkd.in/d_XYVwja). The Jain Foundation’s Co-president Laura Rufibach is a member of the LGMD GCEP, as well as the LGMD Variant Curation Expert Panel (LGMD VCEP) which seeks to resolve the pathogenicity of LGMD variants. ?Resolving variants in DYSF associated with LGMD2B/R2 is important to improve genetic diagnosis for our patient population. Congratulations to Laura and all the authors! At the Jain Foundation, we remain committed to advancing our goal of sharing information through publicly accessible platforms like ClinVar, ClinGen, and peer-reviewed publications. For more information on these ClinGen LGMD panels please visit https://lnkd.in/dgFcMDS6 and https://lnkd.in/dUtP9gCz Jain Foundation Inc Laura Rufibach Doug Albrecht

Jain Foundation is excited to reshare this exciting announcement from C-Path about the launch of a new task force focused on advancing drug development for limb-girdle muscular dystrophies. Our Co-president, Laura Rufibach is on the task force along with other key players in the LGMD community. This task force is taking critical steps toward faster therapeutic progress. It is inspiring to see such collaborative efforts driving forward patient-centered innovation. Jain Foundation Inc

The 10th annual Global “Limb-Girdle Muscular Dystrophy (LGMD) Awareness Day” is dedicated to raising awareness about a rare group of genetic disorders that progressively weaken the muscles, especially around the hips and shoulders. While each form of LGMD is unique, the strength of the community is strong. The awareness day aims to draw attention to this group of neuromuscular diseases. On this day, we honor individuals and families facing LGMD. We also recognize the dedicated researchers, healthcare professionals, and advocates working tirelessly to find treatments, raise awareness, and improve quality of life. Advances in research give a hope that we are moving closer to treatments. The Jain Foundation stands in solidarity with the LGMD community. Let’s take a moment to raise awareness, support ongoing research and foster collaborations.? #LGMDDay Jain Foundation Inc Laura Rufibach Doug Albrecht LGMD Awareness Foundation, Inc.